Other name: Familiar enamel hypoplasia (FEH)
Affected genes: ENAM
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 13 g.59945218C>T c.716C>T p.(P239L)
OMIA link: 002177-9615

Appropriate breeds for testing: Parson Russell Terrier

Symptoms: Amelogenesis imperfecta is a genetic condition affecting the structure, composition and quality of tooth enamel.

References:
Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet 138:525-533, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8